2023
Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses
Peng G, Zhou Q, Chai H, Wen J, Zhao H, Taylor H, Jiang Y, Li P. Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses. Molecular Genetics & Genomic Medicine 2023, 11: e2181. PMID: 37013615, PMCID: PMC10422064, DOI: 10.1002/mgg3.2181.Peer-Reviewed Original ResearchMeSH KeywordsAbortion, SpontaneousChromosome AberrationsFemaleGenomicsHumansMicroarray AnalysisPregnancyPrenatal DiagnosisWilliams SyndromeConceptsGenomic disordersChromosome microarray analysisWilliams-Beuren syndromePathogenic copy number variantsPopulation genetic studiesWolf-Hirschhorn syndromeCopy number variantsDiGeorge syndromeMicroarray analysisMicroarray resultsChromosomal abnormalitiesGenetic studiesNumber variantsGenetic counseling
2021
Experience and lessons on guiding and governing clinical applications of chromosome microarray analysis in the United States
Xie X, Yu J, Qi Z, Bao L, Shen Y, Chen T, Li P. Experience and lessons on guiding and governing clinical applications of chromosome microarray analysis in the United States. 中华医学遗传学杂志 2021, 38: 419-424. PMID: 33974247, DOI: 10.3760/cma.j.cn511374-20200924-00690.Peer-Reviewed Original Research
2017
Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia
Wu W, Liu Y, Zhou Q, Wang Q, Luo F, Xu Z, Geng Q, Li P, Zhang HZ, Xie J. Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia. European Journal Of Medical Genetics 2017, 60: 369-373. PMID: 28419882, DOI: 10.1016/j.ejmg.2017.04.008.Peer-Reviewed Original ResearchConceptsFanconi anemiaCopy number lossNovel homozygous mutation c.Copy number aberrationsDifferent genesMutant variantsSomatic gene mutationsGenotype-phenotype correlationBone marrow failureGenesGain of 3qNumber lossSETBP1 geneNumber aberrationsMutationsHomozygous mutation c.Genotype correlationMarrow failureMutation analysisMutation c.Gene mutationsFANCLChromosomal abnormalitiesHeterogeneous disorderSETBP1 mutations
2016
Recurrent genetic defects in classical Hodgkin lymphoma cell lines
Hudnall SD, Meng H, Lozovatsky L, Li P, Strout M, Kleinstein SH. Recurrent genetic defects in classical Hodgkin lymphoma cell lines. Leukemia & Lymphoma 2016, 57: 2890-2900. PMID: 27121023, DOI: 10.1080/10428194.2016.1177179.Peer-Reviewed Original ResearchConceptsMitosis-related genesSingle nucleotide variantsCHL cell linesCell linesRecurrent genetic defectsPathogenic single nucleotide variantsHL cell linesMitotic genesChromosome duplicationClassical Hodgkin lymphoma cell linesGenomic instabilityGenetic analysisWhole-exome sequencingNucleotide variantsGenesHodgkin's lymphoma cell linesLymphoma cell linesNumber variantsKaryotypic analysisGenetic defectsWealth of informationPoor growthVariantsDuplicationLinesSpectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype Samples
Zhou Q, Wu SY, Amato K, DiAdamo A, Li P. Spectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype Samples. Journal Of Genetics And Genomics 2016, 43: 121-131. PMID: 27020032, DOI: 10.1016/j.jgg.2016.02.002.Peer-Reviewed Original ResearchConceptsCopy number variantsIngenuity Pathway AnalysisPathogenic copy number variantsDosage-sensitive genesCell proliferation pathwaysGenomic copy number variantsArray comparative genomic hybridizationGene networksComparative genomic hybridization analysisComparative genomic hybridizationPathway analysisGenomic hybridization analysisChromosomal abnormalitiesHybridization analysisProliferation pathwaysArray comparative genomic hybridization analysisNumber variantsGenomic hybridizationSitu hybridizationGenesHybridizationCytogenomic abnormalitiesCulture successPolyploidySensitive mechanism
2015
Changes in and Efficacies of Indications for Invasive Prenatal Diagnosis of Cytogenomic Abnormalities: 13 Years of Experience in a Single Center
Meng J, Matarese C, Crivello J, Wilcox K, Wang D, DiAdamo A, Xu F, Li P. Changes in and Efficacies of Indications for Invasive Prenatal Diagnosis of Cytogenomic Abnormalities: 13 Years of Experience in a Single Center. Medical Science Monitor 2015, 21: 1942-1948. PMID: 26143093, PMCID: PMC4497468, DOI: 10.12659/msm.893870.Peer-Reviewed Original Research
2014
Recurrent chromosomal aberrations in intravenous leiomyomatosis of the uterus: high-resolution array comparative genomic hybridization study
Buza N, Xu F, Wu W, Carr RJ, Li P, Hui P. Recurrent chromosomal aberrations in intravenous leiomyomatosis of the uterus: high-resolution array comparative genomic hybridization study. Human Pathology 2014, 45: 1885-1892. PMID: 25033729, DOI: 10.1016/j.humpath.2014.05.010.Peer-Reviewed Original ResearchConceptsOligonucleotide array comparative genomic hybridizationArray comparative genomic hybridizationComparative genomic hybridizationGenome-wide investigationGenomic hybridizationChromosome 22qCopy number lossGene mappingChromosomal aberrationsComparative genomic hybridization studySuccinate dehydrogenase subunit BGenetic instabilityRecurrent chromosomal aberrationsRegions of lossSequencing analysisChromosome 12qNumber lossNumber variantsSubunit BChromosomal alterationsHybridization studies
2011
Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization
Li P, Pomianowski P, DiMaio MS, Florio JR, Rossi MR, Xiang B, Xu F, Yang H, Geng Q, Xie J, Mahoney MJ. Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization. American Journal Of Medical Genetics Part A 2011, 155: 1605-1615. PMID: 21671377, PMCID: PMC3745591, DOI: 10.1002/ajmg.a.34043.Peer-Reviewed Original Research